C0796089[trait identifier] AND "Diagnostic Laboratory, Department of G - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358377	NM_005045.4(RELN):c.10182-11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 95209	NM_005045.4(RELN):c.10074A>G (p.Ala3358=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
Select item 518380	NM_005045.4(RELN):c.8950+16G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 95234	NM_005045.4(RELN):c.8843+7G>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 130144	NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)	RELN, SLC26A5-AS1 (T2933I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1001230	NM_005045.4(RELN):c.8174C>T (p.Ser2725Phe)	RELN, SLC26A5-AS1 (S2725F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 95231	NM_005045.4(RELN):c.8136A>G (p.Leu2712=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GBenign
Select item 95230	NM_005045.4(RELN):c.8046T>C (p.His2682=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 130142	NM_005045.4(RELN):c.7887T>C (p.Pro2629=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95225	NM_005045.4(RELN):c.6084C>T (p.Gly2028=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 212043	NM_005045.4(RELN):c.6078C>T (p.Asn2026=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 167582	NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	RELN (T1873I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +4 more	GConflicting classifications of pathogenicity
Select item 196903	NM_005045.4(RELN):c.4937-4del	RELN	Deletion (intron variant)	Familial temporal lobe epilepsy 7 +2 more	GBenign
Select item 130118	NM_005045.4(RELN):c.2932A>G (p.Thr978Ala)	RELN (T978A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 393143	NM_005045.4(RELN):c.877G>A (p.Asp293Asn)	RELN (D293N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +5 more	GConflicting classifications of pathogenicity
Select item 95224	NM_005045.4(RELN):c.578-3T>C	RELN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign